Homo sapiens Protein: CHD6
Summary
InnateDB Protein IDBP-75448.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHD6
Protein Name chromodomain helicase DNA binding protein 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000362330
InnateDB Gene IDBG-75446 (CHD6)
Protein Structure
UniProt Annotation
Function Probable chromatin-remodeling protein with a DNA- dependent ATPase activity. May play a role in transcription regulation, activating for instance, the transcription of specific genes in response to oxidative stress through interaction with NFE2L2. {ECO:0000269PubMed:16314513}.
Subcellular Localization Nucleus, nucleoplasm {ECO:0000269PubMed:17027977}. Note=Enriched at sites of mRNA synthesis.
Disease Associations Note=A chromosomal aberration disrupting CHD6 has been found in a patient with mild to moderate mental retardation and minor facial anomalies. Translocation t(18;20)(q21.1;q11.2) with TCF4 producing a CHD6-TCF4 fusion transcript (PubMed:18627065). {ECO:0000269PubMed:18627065}.
Tissue Specificity Widely expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001221 transcription cofactor binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0008094 DNA-dependent ATPase activity
GO:0016787 hydrolase activity
GO:0016817 hydrolase activity, acting on acid anhydrides
Biological Process
GO:0006200 ATP catabolic process
GO:0006351 transcription, DNA-templated
GO:0016568 chromatin modification
GO:0036091 positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress
Cellular Component
GO:0005654 nucleoplasm
GO:0005665 DNA-directed RNA polymerase II, core complex
Protein Structure and Domains
PDB ID
InterPro IPR000330 SNF2-related
IPR000953 Chromo domain/shadow
IPR001650 Helicase, C-terminal
IPR006576 BRK domain
IPR006935 Helicase/UvrB domain
IPR011545 DEAD/DEAH box helicase domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR016197 Chromo domain-like
IPR023780 Chromo domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00176
PF00271
PF07533
PF04851
PF00270
PF00385
PRINTS
PIRSF
SMART SM00298
SM00490
SM00592
SM00487
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TD26
PhosphoSite PhosphoSite-Q8TD26
TrEMBL
UniProt Splice Variant
Entrez Gene 84181
UniGene Hs.741381
RefSeq NP_115597
HUGO HGNC:19057
OMIM
CCDS CCDS13317
HPRD 13049
IMGT
EMBL AB037756 AF525085 AK026022 AL031667 AL031669 AL121674 AY034072 BC021907 BC039860 BC040016
GenPept AAH21907 AAK56405 AAN59903 BAA92573 BAB15325 CAI21743 CAI21744 CAI21745 CAI22254 CAI22255 CAI22256 CAI42977 CAI42981 CAI42983